Short Description

NGS genetic DNA test detecets for variant and mutation detection in LAMA3 gene for Epidermolysis bullosa, generalized atrophic benign

PreTest Information

Clinical History of Patient who is going for LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic DNA Test gene LAMA3

Detail Description

LAMA3 Gene Epidermolysis Bullosa: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Epidermolysis Bullosa (EB) is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in one of the genes that code for proteins that help hold the skin together. There are several types of EB, each caused by mutations in different genes. One of these genes is the LAMA3 gene, which codes for a protein called laminin-332. Mutations in the LAMA3 gene can cause a type of EB called generalized atrophic benign EB. In this blog post, we will discuss the symptoms of LAMA3 gene EB, how it is diagnosed, and the cost of NGS genetic DNA testing for this condition.

Symptoms of LAMA3 Gene EB

Generalized atrophic benign EB is a milder form of EB, but it still causes painful blisters and sores on the skin and mucous membranes. The blisters can occur anywhere on the body and can range in size from small to large. They can be triggered by minor trauma or friction, such as rubbing or scratching. In some cases, the blisters may not appear until later in life. Other symptoms of LAMA3 gene EB may include:

• Thin, fragile skin
• Abnormal skin pigmentation
• Nail dystrophy
• Hair loss
• Eye problems, such as corneal abrasions or scarring
• Difficulty swallowing

Diagnosing LAMA3 Gene EB

Diagnosing LAMA3 gene EB involves a combination of clinical examination, family history, and genetic testing. A dermatologist or genetic counselor may perform a skin biopsy to examine the skin under a microscope. This can help identify the type of EB and the specific gene that is affected. Genetic testing, such as next-generation sequencing (NGS), can also be used to confirm the diagnosis and identify the specific mutation in the LAMA3 gene.

NGS Genetic DNA Test Cost for LAMA3 Gene EB

The cost of NGS genetic DNA testing for LAMA3 gene EB in India is typically around INR 20,000. This test is performed on a blood or saliva sample and can identify mutations in multiple genes associated with EB. It can also identify mutations in other genes that may be related to skin disorders or other genetic conditions.

Conclusion

LAMA3 gene EB is a rare genetic disorder that can cause painful blisters and sores on the skin and mucous membranes. It can be diagnosed through a combination of clinical examination, family history, and genetic testing, including NGS genetic DNA testing. If you or a loved one are experiencing symptoms of LAMA3 gene EB, it is important to seek medical attention and speak with a genetic counselor or dermatologist to determine the best course of treatment.

At DNA Labs India, we offer NGS genetic DNA testing for LAMA3 gene EB and other genetic conditions. Our tests are accurate, reliable, and affordable, and our team of genetic counselors and medical professionals is dedicated to providing personalized care and support to our patients. Contact us today to learn more about our services and how we can help you.